| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +3 more) | Deficiency of acetyl-CoA acetyltransferase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Duplication (frameshift variant) | Deficiency of acetyl-CoA acetyltransferase | |
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